Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144683C>A , CM000670.2:g.96144683C>A | GRCh38 |
| NC_000008.10:g.97156911C>A , CM000670.1:g.97156911C>A | GRCh37 |
| NC_000008.9:g.97226087C>A | NCBI36 |
| NG_008981.1:g.21110G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001557.4:c.1248G>T MANE Select | NP_001001557.1:p.Pro416= |
| ENST00000287020.7:c.1248G>T MANE Select | ENSP00000287020.4:p.Pro416= |
| NM_001001557.2:c.1248G>T | NP_001001557.1:p.Pro416= |
| NM_001001557.3:c.1248G>T | NP_001001557.1:p.Pro416= |
| ENST00000287020.6:c.1248G>T | ENSP00000287020.4:p.Pro416= |
| ENST00000620978.1:c.794-6G>T | ENSP00000480170.1:n.794-6G>T |
| ENST00000621429.1:c.997G>T | ENSP00000483711.1:p.Ala333Ser |
| XM_011517030.1:c.849G>T | XP_011515332.1:p.Pro283= |